Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 19:41342209 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002414

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5753, 2010_April_001_104_TGFB1_190180_0001, NM_000660.4:c.673T>C

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays